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Mostrati risultati da 1 a 16 di 16
Titolo Data di pubblicazione Autore(i) File
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 1-gen-2004 Duga, S; Spena, S; Asselta, R; Peyandi, F; Mahasandana, C; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Characterization of the genetic basis of FXI deficiency in two Turkish patients 1-gen-2010 Berber, E.; Rimoldi, V.; Usluer, S.; Aksu, S.; Pekçelen, Y.; Çağlayan, S. H.; Duga, S.
Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations 1-gen-2008 Castaman, G.; Giacomelli, S. H.; Duga, S.; Rodeghiero, F.
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 1-gen-2012 Paraboschi, E; Kayıran, Sm; Özbek, N; Gürakan, B; Guella, I; Duga, S; Asselta, R
Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women. 1-gen-2014 Biguzzi, E; Franchi, F; Acaia, B; Ossola, W; Nava, U; Paraboschi, Em; Asselta, R; Peyvandi, F.
Genetic defects in congenital afibrinogenemia 1-gen-2002 Asselta, R; Spena, S; Duga, S; Tenchini, Ml
Genetic diagnosis of haemophilia and other inherited bleeding disorders 1-gen-2006 Peyvandi, F; Jayandharan, G; Chandy, M; Srivastava, A; Nakaya, Sm; Johnson, Mj; Thompson, Ar; Goodeve, A; Garagiola, I; Lavoretano, S; Menegatti, M; Palla, R; Spreafico, M; Tagliabue, L; Asselta, R; Duga, S; Mannucci, Pm
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. 1-gen-2015 Nuzzo, F; Paraboschi, Em; Straniero, L; Pavlova, A; Duga, S; Castoldi, E.
Identification of the first missense mutation in the fibrinogen Aalpha-chain gene in a case of afibrinogenemia 1-gen-2006 Asselta, R; Platè, M; Santagostino, E; Malcovati, M; Tenchini, Ml.; Duga, S
Identification of two novel missense mutations causing factor XI deficiency 1-gen-2006 Duga, S; Asselta, R; Spena, S; Tagliaferri, A; Malcovati, M; Tenchini, Ml; Castaman, G
Molecular characterization of three novel splicing mutations causing severe factor V deficiency 1-gen-2006 Asselta, R; Dall’Osso, C; Duga, S; Peyvandi, F; Malcovati, M; Tenchini, Ml
Molecular investigation of 41 patients affected by coagulation factor XI deficiency 1-gen-2018 Rimoldi, V; Paraboschi, E; Menegatti, M; Peyvandi, F; Salomon, O; Duga, S; Asselta, R.
Rare coagulation deficiencies 1-gen-2002 Peyvandi, F; Duga, S; Akhavan, S; Mannucci, Pm
State of the art of rare bleeding disorders database (RBDD) 1-gen-2008 Spreafico, M.; Menegatti, M.; Palla, R.; Garagiola, I.; Tagliabue, L.; Cairo, A.; Lavoretano, S.; Asselta, R.; Duga, S.; Mannucci, P. M.; Peyvandi, F.
The spectrum of FXI deficiency in Italy 1-gen-2014 Castaman, G; Giacomelli, Sh; Caccia, S; Riccardi, F; Rossetti, G; Dragani, A; Giuffrida, Ac; Biasoli, C; Duga, S
Two novel homozygous mutations in the fibrinogen genes identified in two Iranian afibrinogenemic patients 1-gen-2006 Monaldini, L; Duga, S; Asselta, R; Peyvandi, F; Karimi, M; Malcovati, M; Tenchini, Ml
Mostrati risultati da 1 a 16 di 16
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